418470004: porfyrie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2573548017 Porphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2576845016 Porphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

86171000146114 porfyrie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

86181000146111 porphyria nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

976071000146111 porfyrie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10280421000146118 Stofwisselingsaandoening die veroorzaakt wordt door een (meestal erfelijke) stoornis in een van de enzymen die betrokken zijn bij de aanmaak van hemoglobine. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Porphyria (disorder)	Is a	Disorder of porphyrin metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acute intermittent porphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Uroporphyrinuria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Drug-induced porphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Secondary porphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Hepatic porphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Erythropoietic porphyria (disorder)	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Chester-type porphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Congenital porphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Coproporphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Porphyria NOS	Is a	False	Porphyria (disorder)	Inferred relationship	Some
Porphyric polyneuropathy	Associated with	True	Porphyria (disorder)	Inferred relationship	Some	1
Neonatal jaundice with porphyria	Due to	True	Porphyria (disorder)	Inferred relationship	Some	2
Neonatal jaundice with porphyria	Is a	True	Porphyria (disorder)	Inferred relationship	Some
Porphyria-induced phototoxic burn (disorder)	Is a	True	Porphyria (disorder)	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)